Canonical Allele Identifier: CA1327174084
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1700368654

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011409A>C , CM000664.2:g.215011409A>C GRCh38
NC_000002.11:g.215876133A>C , CM000664.1:g.215876133A>C GRCh37
NC_000002.10:g.215584378A>C NCBI36
NG_007074.1:g.132019T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.2332+30T>G MANE Select ENSP00000272895.7:n.2332+30T>G
ENST00000272895.11:c.2332+30T>G ENSP00000272895.7:n.2332+30T>G
ENST00000389661.4:c.1378+30T>G ENSP00000374312.4:n.1378+30T>G
NM_015657.3:c.1378+30T>G NP_056472.2:n.1378+30T>G
NM_173076.2:c.2332+30T>G NP_775099.2:n.2332+30T>G
NR_103740.1:n.2576+30T>G
XM_011510951.1:c.2332+30T>G XP_011509253.1:n.2332+30T>G
XM_011510952.1:c.2332+30T>G XP_011509254.1:n.2332+30T>G
XM_011510951.2:c.2332+30T>G XP_011509253.1:n.2332+30T>G
NM_173076.3:c.2332+30T>G MANE Select NP_775099.2:n.2332+30T>G
NR_103740.2:n.2774+30T>G
NM_015657.4:c.1378+30T>G NP_056472.2:n.1378+30T>G